Rhizomelic chondrodysplasia punctata type 1 (Q95905)
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This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired.
| Language | Label | Description | Also known as |
|---|---|---|---|
| default for all languages | ID_44503513 |
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| English | Rhizomelic chondrodysplasia punctata type 1 |
This is a rare, developmental brain disorder characterised by systemic shortening of the proximal bones (i.e. rhizomelia), seizures, recurrent respiratory tract infections, and congenital cataracts. Type 1 (RCDP1) is associated with PEX7 mutations. These are peroxisome biogenesis disorders where proper assembly of peroxisomes is impaired. |
